Noah has a very rare genetic disorder called Pontocerebellar Hypoplasia, which is caused by the TSEN54 gene  

PCH affects the development of the brain. Noah’s cerebellum and pons are underdeveloped; so underdeveloped that as a baby they thought he had a cyst on his brain that needed removing, however it was just an empty space in his brain. 

Signs and symptoms can vary for each child but most children have microcephaly, developmental delay with lack of voluntary motor development, intellectual disability and movement disorders (i.e. chorea, dystonia, and spasticity) as well as epilepsy and many other serious health complications. 

His family were told at 5 months old that Noah’s condition was going to be life limiting and he wouldn’t make it past a very young age. 

Having PCH has meant Noah has not gained any skills past probably 3-6 months of age. He is not able to sit by himself, walk, or talk. Noah has an unsafe swallow which means all fluids are given via his gastrostomy feeding tube. He has to be continuously fed via a pump over around 17hours a day at a rate of 80mls per hour with breaks in between, as his stomach is very slow at absorbing. Noah also takes 30 daily medications, plus a cocktail of rescue medications. 

Over the past couple of years Noahs health has declined, and he received his tracheostomy. His seizures are now ‘uncontrolled’ despite being on 4 epilepsy medications.

The PCH family knows of roughly 20 children in the U.K. at present who have PCH, and sadly some of these amazing children have already passed. 

Despite all of Noah’s challenges in his life he has achieved some great things and his family have made some awesome memories together including;  Disneyland Paris, twice, travelled to Florida, he’s been horse riding, been on a speed boat, touched a dolphin, been ice skating, met Mr Tumble, been to a couple of football matches and met the players, plus many more! 

Although life is really hard at the moment for Noah and his family don’t get to do as much as they had planned for him, they are just super grateful for every day/minute they have to continue loving and hugging him